Folate receptor 1

 Folate receptor 1 (Folate receptor alpha, FOLR1) is a protein that in humans is encoded by the FOLR1 gene.^[5][6]

FOLR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4KM6, 4KM7, 4KMX, 4LRH
Identifiers
Aliases	FOLR1, FBP, FOLR, Folate receptor 1, folate receptor 1 (adult), folate receptor alpha, FRalpha
External IDs	OMIM: 136430 MGI: 95568 HomoloGene: 7322 GeneCards: FOLR1
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.4 Start 72,189,558 bp[1] End 72,196,323 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E2 Start 101,858,331 bp[2] End 101,870,788 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • methotrexate binding • drug binding • folic acid receptor activity • folic acid transporter activity • folic acid binding • signaling receptor activity Cellular component • anchored component of external side of plasma membrane • extracellular region • brush border • clathrin-coated vesicle • ER to Golgi transport vesicle membrane • anchored component of membrane • Golgi membrane • cell nucleus • integral component of plasma membrane • apical plasma membrane • membrane • cell surface • endoplasmic reticulum membrane • brush border membrane • basolateral plasma membrane • cell membrane • cytoplasmic vesicle • endosome • endoplasmic reticulum-Golgi intermediate compartment membrane • anchored component of plasma membrane • extracellular exosome • transport vesicle Biological process • receptor-mediated endocytosis • cellular response to folic acid • neural crest cell migration involved in heart formation • axon regeneration • COPII vesicle coating • ER to Golgi vesicle-mediated transport • heart looping • cardiac neural crest cell migration involved in outflow tract morphogenesis • pharyngeal arch artery morphogenesis • folic acid metabolic process • regulation of transforming growth factor beta receptor signaling pathway • response to axon injury • regulation of canonical Wnt signaling pathway • anterior neural tube closure • folic acid transport • transport • folic acid import across plasma membrane Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2348	14275
Ensembl	ENSG00000110195	ENSMUSG00000001827
UniProt	P15328	P35846
RefSeq (mRNA)	NM_016730 NM_000802 NM_016724 NM_016725 NM_016729	NM_001252552 NM_001252553 NM_001252554 NM_008034
RefSeq (protein)	NP_000793 NP_057936 NP_057937 NP_057941	NP_001239481 NP_001239482 NP_001239483 NP_032060
Location (UCSC)	Chr 11: 72.19 – 72.2 Mb	Chr 7: 101.86 – 101.87 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this family have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells.

This gene is composed of 7 exons; exons 1 through 4 encode the 5' UTR and exons 4 through 7 encode the open reading frame. Due to the presence of 2 promoters, multiple transcription start sites, and alternative splicing of exons, several transcript variants are derived from this gene. These variants differ in the lengths of 5' and 3' UTR, but they encode an identical amino acid sequence.^[6]

Clinical significanceEdit

FRA can be overexpressed by a number of epithelial-derived tumors including ovarian, breast, renal, lung, colorectal, and brain. Hence antibodies to it are used in targeted therapies and diagnostic tests, e.g. farletuzumab in phase III trial for ovarian cancer.

Autoantibodies to the FRA have been linked to neurodevelopmental diseases,^[7] particularly cerebral folate deficiency^[8] schizophrenia^[8] and autism spectrum disorder.^[9] Recent studies have shown that these neurodevelopmental disorders can be treated with folinic acid.^[9][10]

FiguresEdit

Crystallographic structure of FRα protein. The folate is in green, the folate binding site is colored in orange. A Cys66Tyr substitution position induced by a pathogenic variant is represented in red while the disulfide bond between Cys66 and Cys109 is in dark blue. Figure from Mafi et al., 2020^[11]

This article uses material from the Wikipedia article  Metasyntactic variable, which is released under the  Creative Commons Attribution-ShareAlike 3.0 Unported License.